Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis

University College London (UCL)

Status and phase: Completed; Phase 2; Phase 1

Conditions: Retinal Degeneration

Treatments: Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT00643747

06/061

Details and patient eligibility

About

The purpose of the study is to determine whether gene therapy is safe and effective for the treatment of severe childhood blindness caused by mutations in RPE65.

Full description

The main objective of the proposed trial is to determine the safety and efficacy subretinal administration of a recombinant adeno-associated viral vector (rAAV 2/2.hRPE65p.hRPE65) at three different dosage levels in individuals with autosomal recessive severe early-onset retinal degeneration due to mutations in RPE65. We have a comprehensive clinical monitoring plan to investigate the safety and efficacy of vector delivery.

Enrollment: 12 patients

Sex: All

Ages: 5 to 30 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical diagnosis of severe early-onset retinal dystrophy confirmed missense mutation(s) in RPE65

Exclusion criteria

• Visual acuity in the study eye better than 6/36 Snellen
• Hypertension
• Diabetes mellitus
• Tuberculosis
• Renal impairment
• Immunocompromise
• Osteoporosis
• Gastric ulceration
• Severe affective disorder)
• Pregnancy or lactation

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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12 participants in 1 patient group

A

Experimental group

Description:

Injection of vector

Treatment:

Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)